Associated Papers
Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.
Sæther E et al.
Acta Ophthalmologica, 2026
Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.
Bianco L et al.
American Journal of Ophthalmology, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.
Tatemoto Y et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Gene Therapy Strategies for the Treatment of Bestrophinopathies.
Haldrup SB et al.
International Journal of Molecular Sciences, 2025
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
Best Vitelliform Macular Dystrophy Natural History Study Report 2: Fundus Autofluorescence and OCT.
Laich Y et al.
Ophthalmology. Retina, 2025
Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
Ambrosio L et al.
Journal of Clinical Medicine, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M et al.
The British Journal of Ophthalmology, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.
Cideciyan AV et al.
Investigative Ophthalmology & Visual Science, 2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
Kamenarova K et al.
Molecular Genetics & Genomic Medicine, 2022
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
Navinés-Ferrer A et al.
International Journal of Molecular Sciences, 2022
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Nowomiejska K et al.
Acta Ophthalmologica, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.
Jauregui R et al.
Scientific Reports, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ et al.
The British Journal of Ophthalmology, 2020
Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.
Liu J et al.
Investigative Ophthalmology & Visual Science, 2020
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M et al.
Jama Ophthalmology, 2020
Inhibition of Ca2+ channel surface expression by mutant bestrophin-1 in RPE cells.
Cordes M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Ji C et al.
Scientific Reports, 2019
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V et al.
Journal of Translational Medicine, 2019
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
Guo J et al.
Retina (philadelphia, Pa.), 2019
Multimodal Imaging in Best Vitelliform Macular Dystrophy.
Lima de Carvalho JR et al.
Investigative Ophthalmology & Visual Science, 2019
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
Luo J et al.
Acta Ophthalmologica, 2019
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.
Deák GG et al.
Retina (philadelphia, Pa.), 2019
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
Jaffal L et al.
Genes, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.
Foltz LP et al.
Progress in Retinal and Eye Research, 2019